Rs2235040

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Orientationplus
Geno Mag Summary
(A;A) 1 7x more likely to respond to certain antidepressants
(A;G) 1 7x more likely to respond to certain antidepressants
(G;G) 2 7x less likely to respond to certain antidepressants
ReferenceGRCh38 38.1/141
Chromosome7
Position87536434
GeneABCB1
is asnp
is mentioned by
dbSNPrs2235040
Exacrs2235040
PheGenIrs2235040
nextbiors2235040
hapmaprs2235040
1000 genomesrs2235040
hgdprs2235040
ensemblrs2235040
gopubmedrs2235040
geneviewrs2235040
scholarrs2235040
googlers2235040
pharmgkbrs2235040
gwascentralrs2235040
openSNPrs2235040
23andMers2235040
23andMe allrs2235040
SNP Nexus

SNPshotrs2235040
SNPdbers2235040
MSV3drs2235040
GMAF0.1267
? (A;A) (A;G) (G;G) 28
rs2235040 is a SNP in the ABCB1 gene (also known as the MDR1 gene), which encodes a protein that transports certain molecules across the blood-brain barrier. SNPs in ABCB1 may thus influence the intracerebral concentrations of certain drugs and thus their efficacy or potential for adverse side effects. rs2235040 is one of 9 SNPs found within a tight linkage block (r2 >= 0.8 ) such that the minor allele at any one of them predicts (with ~80%+ accuracy) that the other SNPs will also be the minor allele. The list of the 9 SNPs is shown below.

When treated for depression with substrates of the protein encoded by ABCB1, carriers of one or two minor alleles at these ABCB1 SNPs have been reported to respond better than non-carriers. The antidepressant drugs that are known to be substrates include citalopram, paroxetine, amitriptyline, and venlafaxine. The relative odds of better response for rs2235040(G) carriers is 7.72 (CI: 2.8-21.3, p=0.000065) based on a study of ~400 primarily Caucasian patients.10.1016/j.neuron.2007.11.017

The 9 SNPs in the linkage block identified are 10.1016/j.neuron.2007.11.017:

Neighborrs10248420
Distance764
[PMID 18382661OA-icon.png] Pharmacokinetic genes do not influence response or tolerance to citalopram in the STAR*D sample.


[PMID 22641028] ABCB1 gene variants influence tolerance to selective serotonin reuptake inhibitors in a large sample of Dutch cases with major depressive disorder.


GET Evidence
rs2235040
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.139059
summary